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For: Wallace RH, Scheffer IE, Barnett S, Richards M, Dibbens L, Desai RR, Lerman-Sagie T, Lev D, Mazarib A, Brand N, Ben-Zeev B, Goikhman I, Singh R, Kremmidiotis G, Gardner A, Sutherland GR, George AL, Mulley JC, Berkovic SF. Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet 2001;68:859-65. [PMID: 11254444 PMCID: PMC1275639 DOI: 10.1086/319516] [Citation(s) in RCA: 242] [Impact Index Per Article: 10.1] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/20/2000] [Accepted: 01/30/2001] [Indexed: 11/03/2022]  Open
Number Cited by Other Article(s)
1
Mohammadi I, Rajai Firouzabadi S, Aarabi A, Sadraei S, Saadati A, Mohammad Soltani S, Safarpour Lima B. The association of SCN1A polymorphisms with epilepsy and drug resistance: a systematic review and meta-analysis. Neurogenetics 2025;26:42. [PMID: 40178659 DOI: 10.1007/s10048-025-00823-w] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/24/2024] [Accepted: 03/20/2025] [Indexed: 04/05/2025]
2
Dabla PK, Gupta S, Singh S, Viswas A, Yadav M, Sonkar SC, Koner BC. Sodium channel mutation SCN1A T875M, D188V and associated dysfunction with drug resistant epilepsy. World J Psychiatry 2025;15:100738. [PMID: 39974498 PMCID: PMC11758033 DOI: 10.5498/wjp.v15.i2.100738] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/24/2024] [Revised: 11/30/2024] [Accepted: 12/20/2024] [Indexed: 01/14/2025]  Open
3
Neal ES, Xu W, Borges K. Metabolic aspects of genetic ion channel epilepsies. J Neurochem 2024;168:3911-3935. [PMID: 37594756 PMCID: PMC11591411 DOI: 10.1111/jnc.15938] [Citation(s) in RCA: 2] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/06/2023] [Revised: 07/17/2023] [Accepted: 08/01/2023] [Indexed: 08/19/2023]
4
Zhang M, Guo J, Li B, Liu K, Zhao J, Zhang J, Lin X, Tang B, Wang J, Liao W, He N. Characteristic spatial and frequency distribution of mutations in SCN1A. ACTA EPILEPTOLOGICA 2024;6:37. [PMID: 40217529 PMCID: PMC11960241 DOI: 10.1186/s42494-024-00178-z] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/08/2024] [Accepted: 08/02/2024] [Indexed: 04/14/2025]  Open
5
Gauer L, Baer S, Valenti-Hirsch MP, De Saint-Martin A, Hirsch E. Drug-resistant generalized epilepsies: Revisiting the frontiers of idiopathic generalized epilepsies. Rev Neurol (Paris) 2024;180:290-297. [PMID: 38508955 DOI: 10.1016/j.neurol.2024.03.001] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/21/2023] [Revised: 03/05/2024] [Accepted: 03/07/2024] [Indexed: 03/22/2024]
6
Abduljabbar R, Tamimi DE, Yousef AM. The potential implication of MDR1 and NAC1 genetic polymorphisms on resistance to antiepileptic drugs among a Jordanian epileptic population: a cross-sectional study. Ann Hum Biol 2023;50:82-93. [PMID: 36714955 DOI: 10.1080/03014460.2023.2173291] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/31/2023]
7
Myers KA. SCN1A as a therapeutic target for Dravet syndrome. Expert Opin Ther Targets 2023;27:459-467. [PMID: 37364240 DOI: 10.1080/14728222.2023.2230364] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/21/2023] [Revised: 06/08/2023] [Accepted: 06/23/2023] [Indexed: 06/28/2023]
8
Kolesnikova TO, Demin KA, Costa FV, Zabegalov KN, de Abreu MS, Gerasimova EV, Kalueff AV. Towards Zebrafish Models of CNS Channelopathies. Int J Mol Sci 2022;23:ijms232213979. [PMID: 36430455 PMCID: PMC9693542 DOI: 10.3390/ijms232213979] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/14/2022] [Revised: 11/06/2022] [Accepted: 11/10/2022] [Indexed: 11/16/2022]  Open
9
Automatic Detection and Classification of Epileptic Seizures in Patients with Liver Cirrhosis and Overlapping Hev Infection Based on Deep Multimodal Fusion Technology. CONTRAST MEDIA & MOLECULAR IMAGING 2022;2022:3176134. [PMID: 36105452 PMCID: PMC9452993 DOI: 10.1155/2022/3176134] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 07/08/2022] [Revised: 07/27/2022] [Accepted: 08/06/2022] [Indexed: 11/17/2022]
10
Specchio N, Wirrell EC, Scheffer IE, Nabbout R, Riney K, Samia P, Guerreiro M, Gwer S, Zuberi SM, Wilmshurst JM, Yozawitz E, Pressler R, Hirsch E, Wiebe S, Cross HJ, Perucca E, Moshé SL, Tinuper P, Auvin S. International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions. Epilepsia 2022;63:1398-1442. [PMID: 35503717 DOI: 10.1111/epi.17241] [Citation(s) in RCA: 386] [Impact Index Per Article: 128.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/24/2021] [Revised: 03/16/2022] [Accepted: 03/17/2022] [Indexed: 12/30/2022]
11
Chen C, Fang F, Wang X, Lv J, Wang X, Jin H. Phenotypic and Genotypic Characteristics of SCN1A Associated Seizure Diseases. Front Mol Neurosci 2022;15:821012. [PMID: 35571373 PMCID: PMC9096348 DOI: 10.3389/fnmol.2022.821012] [Citation(s) in RCA: 11] [Impact Index Per Article: 3.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/23/2021] [Accepted: 03/09/2022] [Indexed: 11/13/2022]  Open
12
Development of High affinity Nanobodies Specific for NaV1.4 and NaV1.5 Voltage-Gated Sodium Channel Isoforms. J Biol Chem 2022;298:101763. [PMID: 35202650 PMCID: PMC8935509 DOI: 10.1016/j.jbc.2022.101763] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/19/2022] [Revised: 02/16/2022] [Accepted: 02/18/2022] [Indexed: 11/22/2022]  Open
13
Dell'Isola GB, Vinti V, Fattorusso A, Tascini G, Mencaroni E, Di Cara G, Striano P, Verrotti A. The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation. Front Neurol 2022;12:780053. [PMID: 35111125 PMCID: PMC8801579 DOI: 10.3389/fneur.2021.780053] [Citation(s) in RCA: 15] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/20/2021] [Accepted: 12/15/2021] [Indexed: 11/13/2022]  Open
14
Hu K, Liang P. Transcriptome Analysis Reveals Higher Levels of Mobile Element-Associated Abnormal Gene Transcripts in Temporal Lobe Epilepsy Patients. Front Genet 2021;12:767341. [PMID: 34868252 PMCID: PMC8640520 DOI: 10.3389/fgene.2021.767341] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/30/2021] [Accepted: 10/25/2021] [Indexed: 11/13/2022]  Open
15
GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients. Seizure 2021;93:88-94. [PMID: 34740144 DOI: 10.1016/j.seizure.2021.10.013] [Citation(s) in RCA: 11] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/19/2021] [Revised: 10/14/2021] [Accepted: 10/16/2021] [Indexed: 12/25/2022]  Open
16
Wu X, Hong L. Calmodulin Interactions with Voltage-Gated Sodium Channels. Int J Mol Sci 2021;22:ijms22189798. [PMID: 34575961 PMCID: PMC8472079 DOI: 10.3390/ijms22189798] [Citation(s) in RCA: 12] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/24/2021] [Revised: 09/06/2021] [Accepted: 09/07/2021] [Indexed: 02/06/2023]  Open
17
Magalhães PHM, Moraes HT, Athie MCP, Secolin R, Lopes-Cendes I. New avenues in molecular genetics for the diagnosis and application of therapeutics to the epilepsies. Epilepsy Behav 2021;121:106428. [PMID: 31400936 DOI: 10.1016/j.yebeh.2019.07.029] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/05/2019] [Revised: 06/14/2019] [Accepted: 07/06/2019] [Indexed: 11/22/2022]
18
Zhou X, Xu H, Cai X, Tang B, Liu X, Shi Y, Zheng J, Liao W, Yu L. Differences in SCN1A intronic variants result in diverse aberrant splicing patterns and are related to the phenotypes of epilepsy with febrile seizures. Epilepsy Res 2021;176:106711. [PMID: 34293681 DOI: 10.1016/j.eplepsyres.2021.106711] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/25/2021] [Revised: 06/05/2021] [Accepted: 07/05/2021] [Indexed: 10/20/2022]
19
Pitzer EM, Williams MT, Vorhees CV. Effects of pyrethroids on brain development and behavior: Deltamethrin. Neurotoxicol Teratol 2021;87:106983. [PMID: 33848594 PMCID: PMC8440325 DOI: 10.1016/j.ntt.2021.106983] [Citation(s) in RCA: 45] [Impact Index Per Article: 11.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/14/2020] [Revised: 02/09/2021] [Accepted: 04/05/2021] [Indexed: 12/12/2022]
20
Chen W, Luo B, Gao N, Li H, Wang H, Li L, Cui W, Zhang L, Sun D, Liu F, Dong Z, Ren X, Zhang H, Su H, Xiong WC, Mei L. Neddylation stabilizes Nav1.1 to maintain interneuron excitability and prevent seizures in murine epilepsy models. J Clin Invest 2021;131:136956. [PMID: 33651714 DOI: 10.1172/jci136956] [Citation(s) in RCA: 19] [Impact Index Per Article: 4.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/03/2020] [Accepted: 02/23/2021] [Indexed: 12/19/2022]  Open
21
Ma H, Guo Y, Chen Z, Wang L, Tang Z, Zhang J, Miao Q, Zhai Q. Mutations in the sodium channel genes SCN1A, SCN3A, and SCN9A in children with epilepsy with febrile seizures plus(EFS+). Seizure 2021;88:146-152. [PMID: 33895391 DOI: 10.1016/j.seizure.2021.04.006] [Citation(s) in RCA: 10] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/19/2020] [Revised: 03/31/2021] [Accepted: 04/06/2021] [Indexed: 11/17/2022]  Open
22
Jones LB, Peters CH, Rosch RE, Owers M, Hughes E, Pal DK, Ruben PC. The L1624Q Variant in SCN1A Causes Familial Epilepsy Through a Mixed Gain and Loss of Channel Function. Front Pharmacol 2021;12:788192. [PMID: 34925043 PMCID: PMC8675213 DOI: 10.3389/fphar.2021.788192] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/01/2021] [Accepted: 11/17/2021] [Indexed: 11/13/2022]  Open
23
Wong JC, Shapiro L, Thelin JT, Heaton EC, Zaman RU, D'Souza MJ, Murnane KS, Escayg A. Nanoparticle encapsulated oxytocin increases resistance to induced seizures and restores social behavior in Scn1a-derived epilepsy. Neurobiol Dis 2020;147:105147. [PMID: 33189882 DOI: 10.1016/j.nbd.2020.105147] [Citation(s) in RCA: 20] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/05/2020] [Revised: 10/14/2020] [Accepted: 10/23/2020] [Indexed: 02/06/2023]  Open
24
Jaber D, Gitiaux C, Blesson S, Marguet F, Buard D, Varela Salgado M, Kaminska A, Saada J, Fallet-Bianco C, Martinovic J, Laquerriere A, Melki J. De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes. J Med Genet 2020;58:737-742. [PMID: 32928894 PMCID: PMC8551978 DOI: 10.1136/jmedgenet-2020-107166] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/08/2020] [Revised: 08/02/2020] [Accepted: 08/06/2020] [Indexed: 12/26/2022]
25
Menezes LFS, Sabiá Júnior EF, Tibery DV, Carneiro LDA, Schwartz EF. Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review. Front Pharmacol 2020;11:1276. [PMID: 33013363 PMCID: PMC7461817 DOI: 10.3389/fphar.2020.01276] [Citation(s) in RCA: 76] [Impact Index Per Article: 15.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/21/2020] [Accepted: 07/31/2020] [Indexed: 12/29/2022]  Open
26
Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion. J Neurol Sci 2020;414:116808. [PMID: 32276107 DOI: 10.1016/j.jns.2020.116808] [Citation(s) in RCA: 10] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/10/2020] [Revised: 03/23/2020] [Accepted: 03/26/2020] [Indexed: 11/23/2022]
27
Luo X, Li Z, Zhao J, Deng Y, Zhong Y, Zhang M. Fyn gene silencing reduces oligodendrocytes apoptosis through inhibiting ERK1/2 phosphorylation in epilepsy. ARTIFICIAL CELLS NANOMEDICINE AND BIOTECHNOLOGY 2020;48:298-304. [PMID: 31852295 DOI: 10.1080/21691401.2019.1671428] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 12/12/2022]
28
Mei D, Cetica V, Marini C, Guerrini R. Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies. Epilepsia 2020;60 Suppl 3:S2-S7. [PMID: 31904125 DOI: 10.1111/epi.16054] [Citation(s) in RCA: 24] [Impact Index Per Article: 4.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/21/2019] [Revised: 05/06/2019] [Accepted: 05/08/2019] [Indexed: 01/01/2023]
29
Zhang T, Chen M, Zhu A, Zhang X, Fang T. Novel mutation of SCN9A gene causing generalized epilepsy with febrile seizures plus in a Chinese family. Neurol Sci 2020;41:1913-1917. [PMID: 32062735 PMCID: PMC7359139 DOI: 10.1007/s10072-020-04284-x] [Citation(s) in RCA: 12] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/21/2019] [Accepted: 02/03/2020] [Indexed: 12/28/2022]
30
Scheffer IE, Nabbout R. SCN1A‐related phenotypes: Epilepsy and beyond. Epilepsia 2019;60 Suppl 3:S17-S24. [DOI: 10.1111/epi.16386] [Citation(s) in RCA: 60] [Impact Index Per Article: 10.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/18/2022]
31
Xie Y, Ng NN, Safrina OS, Ramos CM, Ess KC, Schwartz PH, Smith MA, O'Dowd DK. Comparisons of dual isogenic human iPSC pairs identify functional alterations directly caused by an epilepsy associated SCN1A mutation. Neurobiol Dis 2019;134:104627. [PMID: 31786370 DOI: 10.1016/j.nbd.2019.104627] [Citation(s) in RCA: 23] [Impact Index Per Article: 3.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/16/2019] [Revised: 09/05/2019] [Accepted: 09/26/2019] [Indexed: 02/06/2023]  Open
32
Gonsales MC, Montenegro MA, Preto P, Guerreiro MM, Coan AC, Quast MP, Carvalho BS, Lopes-Cendes I. Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome. Front Neurol 2019;10:289. [PMID: 31001185 PMCID: PMC6455056 DOI: 10.3389/fneur.2019.00289] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/17/2019] [Accepted: 03/06/2019] [Indexed: 01/27/2023]  Open
33
Berecki G, Bryson A, Terhag J, Maljevic S, Gazina EV, Hill SL, Petrou S. SCN1A gain of function in early infantile encephalopathy. Ann Neurol 2019;85:514-525. [DOI: 10.1002/ana.25438] [Citation(s) in RCA: 51] [Impact Index Per Article: 8.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/11/2018] [Revised: 02/14/2019] [Accepted: 02/15/2019] [Indexed: 02/01/2023]
34
Myers KA, Shevell MI, Sébire G. Sudden unexpected death in GEFS+ families with sodium channel pathogenic variants. Epilepsy Res 2019;150:66-69. [PMID: 30660056 DOI: 10.1016/j.eplepsyres.2019.01.009] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/14/2018] [Revised: 11/22/2018] [Accepted: 01/13/2019] [Indexed: 11/28/2022]
35
Kumar A, Juhász C, Luat A, Govil-Dalela T, Behen ME, Hicks MA, Chugani HT. Evolution of Brain Glucose Metabolic Abnormalities in Children With Epilepsy and SCN1A Gene Variants. J Child Neurol 2018;33:832-836. [PMID: 30182801 DOI: 10.1177/0883073818796373] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/11/2022]
36
Leung AK, Hon KL, Leung TN. Febrile seizures: an overview. Drugs Context 2018;7:212536. [PMID: 30038660 PMCID: PMC6052913 DOI: 10.7573/dic.212536] [Citation(s) in RCA: 94] [Impact Index Per Article: 13.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/16/2018] [Revised: 06/16/2018] [Accepted: 06/19/2018] [Indexed: 12/14/2022]  Open
37
Cardoso FC, Lewis RJ. Sodium channels and pain: from toxins to therapies. Br J Pharmacol 2018;175:2138-2157. [PMID: 28749537 PMCID: PMC5980290 DOI: 10.1111/bph.13962] [Citation(s) in RCA: 68] [Impact Index Per Article: 9.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/04/2017] [Revised: 07/11/2017] [Accepted: 07/17/2017] [Indexed: 12/16/2022]  Open
38
Liu XW, Li W, Han T, Wei K, Qiao S, Su L, Chi Z. The finding of a new heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing. Clin Neurol Neurosurg 2018;169:86-91. [DOI: 10.1016/j.clineuro.2017.10.020] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/15/2017] [Revised: 10/13/2017] [Accepted: 10/21/2017] [Indexed: 12/30/2022]
39
Mullen SA, Berkovic SF. Genetic generalized epilepsies. Epilepsia 2018;59:1148-1153. [PMID: 29741207 DOI: 10.1111/epi.14042] [Citation(s) in RCA: 50] [Impact Index Per Article: 7.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 02/12/2018] [Indexed: 01/06/2023]
40
Pavone P, Corsello G, Ruggieri M, Marino S, Marino S, Falsaperla R. Benign and severe early-life seizures: a round in the first year of life. Ital J Pediatr 2018;44:54. [PMID: 29764460 PMCID: PMC5952424 DOI: 10.1186/s13052-018-0491-z] [Citation(s) in RCA: 16] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/10/2018] [Accepted: 04/18/2018] [Indexed: 12/26/2022]  Open
41
Brownstein CA, Goldstein RD, Thompson CH, Haynes RL, Giles E, Sheidley B, Bainbridge M, Haas EA, Mena OJ, Lucas J, Schaber B, Holm IA, George AL, Kinney HC, Poduri AH. SCN1A variants associated with sudden infant death syndrome. Epilepsia 2018;59:e56-e62. [PMID: 29601086 DOI: 10.1111/epi.14055] [Citation(s) in RCA: 31] [Impact Index Per Article: 4.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 02/16/2018] [Indexed: 12/27/2022]
42
Hiekkala ME, Vuola P, Artto V, Häppölä P, Häppölä E, Vepsäläinen S, Cuenca-León E, Lal D, Gormley P, Hämäläinen E, Ilmavirta M, Nissilä M, Säkö E, Sumelahti ML, Harno H, Havanka H, Keski-Säntti P, Färkkilä M, Palotie A, Wessman M, Kaunisto MA, Kallela M. The contribution of CACNA1A, ATP1A2 and SCN1A mutations in hemiplegic migraine: A clinical and genetic study in Finnish migraine families. Cephalalgia 2018;38:1849-1863. [PMID: 29486580 DOI: 10.1177/0333102418761041] [Citation(s) in RCA: 34] [Impact Index Per Article: 4.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/03/2023]
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Maljevic S, Reid CA, Petrou S. Models for discovery of targeted therapy in genetic epileptic encephalopathies. J Neurochem 2017;143:30-48. [PMID: 28742937 DOI: 10.1111/jnc.14134] [Citation(s) in RCA: 30] [Impact Index Per Article: 3.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/27/2017] [Revised: 07/14/2017] [Accepted: 07/19/2017] [Indexed: 12/20/2022]
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Katsarou A, Moshé SL, Galanopoulou AS. INTERNEURONOPATHIES AND THEIR ROLE IN EARLY LIFE EPILEPSIES AND NEURODEVELOPMENTAL DISORDERS. Epilepsia Open 2017;2:284-306. [PMID: 29062978 PMCID: PMC5650248 DOI: 10.1002/epi4.12062] [Citation(s) in RCA: 53] [Impact Index Per Article: 6.6] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 05/03/2017] [Indexed: 12/22/2022]  Open
45
Zhang YH, Burgess R, Malone JP, Glubb GC, Helbig KL, Vadlamudi L, Kivity S, Afawi Z, Bleasel A, Grattan-Smith P, Grinton BE, Bellows ST, Vears DF, Damiano JA, Goldberg-Stern H, Korczyn AD, Dibbens LM, Ruzzo EK, Hildebrand MS, Berkovic SF, Scheffer IE. Genetic epilepsy with febrile seizures plus: Refining the spectrum. Neurology 2017;89:1210-1219. [PMID: 28842445 DOI: 10.1212/wnl.0000000000004384] [Citation(s) in RCA: 96] [Impact Index Per Article: 12.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/13/2016] [Accepted: 05/12/2017] [Indexed: 12/26/2022]  Open
46
Sadleir LG, Mountier EI, Gill D, Davis S, Joshi C, DeVile C, Kurian MA, Mandelstam S, Wirrell E, Nickels KC, Murali HR, Carvill G, Myers CT, Mefford HC, Scheffer IE. Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. Neurology 2017;89:1035-1042. [PMID: 28794249 PMCID: PMC5589790 DOI: 10.1212/wnl.0000000000004331] [Citation(s) in RCA: 95] [Impact Index Per Article: 11.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/17/2017] [Accepted: 06/16/2017] [Indexed: 11/15/2022]  Open
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Sands TT, Choi H. Genetic Testing in Pediatric Epilepsy. Curr Neurol Neurosci Rep 2017;17:45. [PMID: 28405954 DOI: 10.1007/s11910-017-0753-y] [Citation(s) in RCA: 30] [Impact Index Per Article: 3.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/19/2022]
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Myers KA, Burgess R, Afawi Z, Damiano JA, Berkovic SF, Hildebrand MS, Scheffer IE. De novoSCN1Apathogenic variants in the GEFS+ spectrum: Not always a familial syndrome. Epilepsia 2017;58:e26-e30. [DOI: 10.1111/epi.13649] [Citation(s) in RCA: 22] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 11/22/2016] [Indexed: 11/28/2022]
49
Møller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U, Borggraefe I, Talvik I, Talvik T, Kluger G, Francois LL, Lesca G, de Bellescize J, Blichfeldt S, Chatron N, Holert N, Jacobs J, Swinkels M, Betzler C, Syrbe S, Nikanorova M, Myers CT, Larsen LHG, Vejzovic S, Pendziwiat M, von Spiczak S, Hopkins S, Dubbs H, Mang Y, Mukhin K, Holthausen H, van Gassen KL, Dahl HA, Tommerup N, Mefford HC, Rubboli G, Guerrini R, Lemke JR, Lerche H, Muhle H, Maljevic S. Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. Neurology 2017;88:483-492. [PMID: 28053010 DOI: 10.1212/wnl.0000000000003565] [Citation(s) in RCA: 82] [Impact Index Per Article: 10.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/12/2016] [Accepted: 11/07/2016] [Indexed: 12/28/2022]  Open
50
When Should Genetic Testing Be Performed in Epilepsy Patients? Epilepsy Curr 2017;17:16-22. [PMID: 28331464 DOI: 10.5698/1535-7511-17.1.16] [Citation(s) in RCA: 33] [Impact Index Per Article: 4.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/08/2023]  Open
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